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Genome structural variation and lung health

Department of Genetics and Genome Biology

About the Project

Chronic respiratory diseases, such as chronic obstructive pulmonary disease (COPD), asthma and idiopathic pulmonary fibrosis, remain a leading cause of death across the world.

Genomewide association studies of lung function, asthma and idiopathic pulmonary fibrosis have identified structurally variable regions next to SNPs associated with disease. These include the gene regions MUC5B and MUC5AC, which both contain large variable number tandem repeats that have been challenging in genome assembly, and remain poorly characterised, with information only from 25-year old Southern blot experiments. It is therefore important to characterise the variation at the structural and sequence level and to relate this variation to the sentinel SNP showing associations with disease, with the ultimate aim of devising an imputation panel to impute structural variants at these loci, and to determine the molecular basis of the genetic association.

The project will use new long-read sequencing technology, and will be mostly computational, although there will be opportunities for lab work.

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